P103L (p.Pro103Leu) variant of ERCC2 (P18074)
P103L (p.Pro103Leu) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Xeroderma pigmentosum, group D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P103L (p.Pro103Leu) variant details
- p.Pro103Leu
- rs142462393
- ClinGen CA9513832
- cosmic curated COSV55540
- ClinVar RCV000354908
- Uncertain significance
- not provided; Xeroderma pigmentosum, group D
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.13
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum, group D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)